Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes

A. D'Amico, G. Haliloglu, P. Richard, B. Talim, S. Maugenre, A. Ferreiro, P. Guicheney, I. Menditto, S. Benedetti, E. Bertini, G. Bonne, H. Topaloglu

Research output: Contribution to journalArticlepeer-review

Abstract

Dropped head syndrome is characterized by severe weakness of neck extensor muscles with sparing of the flexors. It is a prominent sign in several neuromuscular conditions, but it may also be an isolated feature with uncertain aetiology. We report two children in whom prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively. This report expands the underlying causes of the dropped head syndrome which may be the presenting feature of a congenital muscular dystrophy.

Original languageEnglish
Pages (from-to)521-524
Number of pages4
JournalNeuromuscular Disorders
Volume15
Issue number8
DOIs
Publication statusPublished - Aug 2005

Keywords

  • Congenital muscular dystrophy
  • Dropped head
  • Lamin A/C
  • SEPN1

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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